Posted by: copycat April 8, 2008
Login in to Rate this Post:
0 
? 
?
Strictly Science: not all may understand.
"The genetic etiology of age-related macular degeneration (AMD), the leading cause of blindness in the elderly, is beginning to be unraveled with the discovery of the associations with Y402H in complement factor H (CFH) on chromosome 1 and LOC387715 A69S on chromosome 10." Human Molecular Genetics, 2008, Vol. 17, No. 7- 971–977
Could anyone help me understand this sentence. Specially, what does "Y402H" mean? One research paper has title "CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration". What does this 'coding variant of gene' mean? Y402H doesnt look like a name of a gene as it seems to me like a part of gene CFH. Does it represent certain AA sequence? I am lost.
Also, what does A69S mean? LOC387715 is a gene name ( OMIM#611313). But it does not include A69S part in OMIM.
Any help will be appreciated.
"The genetic etiology of age-related macular degeneration (AMD), the leading cause of blindness in the elderly, is beginning to be unraveled with the discovery of the associations with Y402H in complement factor H (CFH) on chromosome 1 and LOC387715 A69S on chromosome 10." Human Molecular Genetics, 2008, Vol. 17, No. 7- 971–977
Could anyone help me understand this sentence. Specially, what does "Y402H" mean? One research paper has title "CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration". What does this 'coding variant of gene' mean? Y402H doesnt look like a name of a gene as it seems to me like a part of gene CFH. Does it represent certain AA sequence? I am lost.
Also, what does A69S mean? LOC387715 is a gene name ( OMIM#611313). But it does not include A69S part in OMIM.
Any help will be appreciated.